Canonical Allele Identifier: CA1139663008
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 987465
ClinVar RCV Id: RCV001268847
dbSNP Id: rs1869112857

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340578_23340581del , CM000675.2:g.23340578_23340581del GRCh38
NC_000013.10:g.23914717_23914720del , CM000675.1:g.23914717_23914720del GRCh37
NC_000013.9:g.22812717_22812720del NCBI36
NG_012342.1:g.98125_98128del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+13207_2185+13210del ENSP00000508399.1:n.2185+13207_2185+13210...
ENST00000682944.1:c.3325_3328del ENSP00000507173.1:p.Glu1109ArgfsTer25
ENST00000683210.1:c.2185+13207_2185+13210del ENSP00000506739.1:n.2185+13207_2185+13210...
ENST00000683270.1:c.3289_3292del ENSP00000507624.1:p.Glu1097ArgfsTer25
ENST00000683367.1:c.2177-11094_2177-11091del ENSP00000507780.1:n.2177-11094_2177-11091...
ENST00000683489.1:c.2291+1007_2291+1010del ENSP00000508403.1:n.2291+1007_2291+1010de...
ENST00000683680.1:c.2318+1007_2318+1010del ENSP00000507223.1:n.2318+1007_2318+1010de...
ENST00000684163.1:c.2203+6233_2203+6236del ENSP00000508262.1:n.2203+6233_2203+6236de...
ENST00000684196.1:n.4543-11094_4543-11091del
ENST00000684325.1:c.2185+13207_2185+13210del ENSP00000508121.1:n.2185+13207_2185+13210...
ENST00000684385.1:c.2220+6233_2220+6236del ENSP00000507855.1:n.2220+6233_2220+6236de...
ENST00000684497.1:c.2185+13207_2185+13210del ENSP00000507057.1:n.2185+13207_2185+13210...
ENST00000382292.9:c.3298_3301del MANE Select ENSP00000371729.3:p.Glu1100ArgfsTer25
ENST00000423156.2:c.2186-11094_2186-11091del ENSP00000390925.2:n.2186-11094_2186-11091...
ENST00000455470.6:c.2431+867_2431+870del ENSP00000406565.2:n.2431+867_2431+870del
ENST00000382292.7:c.3298_3301del ENSP00000371729.3:p.Glu1100ArgfsTer25
ENST00000382298.7:c.3298_3301del ENSP00000371735.3:p.Glu1100ArgfsTer25
ENST00000402364.1:c.1048_1051del ENSP00000385844.1:p.Glu350ArgfsTer25
ENST00000423156.1:c.1058-11094_1058-11091del ENSP00000390925.1:n.1058-11094_1058-11091...
ENST00000455470.5:c.2129+867_2129+870del
NM_001278055.1:c.2857_2860del NP_001264984.1:p.Glu953ArgfsTer25
NM_014363.5:c.3298_3301del NP_055178.3:p.Glu1100ArgfsTer25
XM_005266338.1:c.3325_3328del XP_005266395.1:p.Glu1109ArgfsTer25
XM_011535038.1:c.3349_3352del XP_011533340.1:p.Glu1117ArgfsTer25
XM_011535039.1:c.3316_3319del XP_011533341.1:p.Glu1106ArgfsTer25
XM_005266338.2:c.3325_3328del XP_005266395.1:p.Glu1109ArgfsTer25
XM_011535039.2:c.3316_3319del XP_011533341.1:p.Glu1106ArgfsTer25
XM_017020539.1:c.3289_3292del XP_016876028.1:p.Glu1097ArgfsTer25
XM_024449337.1:c.3325_3328del XP_024305105.1:p.Glu1109ArgfsTer25
NM_014363.6:c.3298_3301del MANE Select NP_055178.3:p.Glu1100ArgfsTer25
NM_001278055.2:c.2857_2860del NP_001264984.1:p.Glu953ArgfsTer25